1 / 26

Overview of disorders and E-HOD

Overview of disorders and E-HOD. Prof Henk Blom Coordinator E-HOD Clinical Biochemical Geneticist Laboratory for Clinical Biochemistry and Metabolism Department of General Pediatrics Center for Pediatrics and Adolescent Medicine University Hospital Freiburg, Germany.

jfarrish
Download Presentation

Overview of disorders and E-HOD

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Overview of disorders and E-HOD Prof Henk Blom Coordinator E-HOD Clinical Biochemical Geneticist Laboratory for Clinical Biochemistry and Metabolism Department of General Pediatrics Center for Pediatrics and Adolescent Medicine University Hospital Freiburg, Germany

  2. European Network and Registry for Homocystinurias and Methylation Disorders EAHC 2012 12 02 Henk Blom, coordinator

  3. Disease panel Methylation defects • MAT • GNMT • SAHH • ADK Folate defects • MTHFD • GFT • FTCD Homocystinurias • CBS • MTHFR • CblC • CblD • CblE • CblF • CblG • CblJ

  4. Homocysteine metabolism X AdoMet CH3-X Methionine AdoHcy THF Homocysteine 5-MeTHF 5,10-CH2-THF Cystathionine Cysteine simplified version

  5. Homocysteine metabolism X AdoMet ATP MAT CH3-X Methionine AdoHcy THF Homocysteine 5-MeTHF 5,10-CH2-THF Cystathionine Cysteine MAT = methionine adenosyltransferase

  6. Homocysteine metabolism X methyltransferases AdoMet CH3-X Methionine AdoHcy THF Homocysteine 5-MeTHF 5,10-CH2-THF Cystathionine Cysteine Methyltransfer is house-hold metabolism

  7. Homocysteine metabolism X methyltransferases AdoMet CH3-X Methionine DNA, RNA, proteins, lipids, neurotransmitters, etc. AdoHcy THF Homocysteine 5-MeTHF 5,10-CH2-THF Cystathionine Cysteine Methyltransfer is house-hold metabolism

  8. Homocysteine metabolism X AdoMet CH3-X Methionine AdoHcy THF SAHH Homocysteine 5-MeTHF 5,10-CH2-THF Cystathionine Cysteine SAHH = S-adenosylhomocysteine hydrolase

  9. B12 B2 B6 Homocysteine converting enzymes X AdoMet CH3-X Methionine DNA, RNA, proteins, lipids, neurotransmitters, etc. AdoHcy THF MS Homocysteine MTHFR 5-MeTHF 5,10-CH2-THF CBS Cystathionine Cysteine THF = tetrahydrofolate, is also a B-vitamin

  10. General objective E-HOD Promote health for children, adolescents and adults affecte with HCU and MD Reduce variation between countries Improve access to medical expertise and information for these rare diseases

  11. Scope & objectives Improving knowledge on HCU and MD through collection of clinical data into a registry Developing diagnosis and clinical care recommendations Evaluating newborn screening (NBS) programme with recommendations

  12. Project structure Vertical WPs Horizontal WPs WP4 Registry WP lead: Heidelberg (Kölker)  All clinical beneficiaries and collaborating partners WP5 Guidelines WP lead: Rome (Dionisi-Vici)  All clinical beneficiaries and collaborating partners • WP6 • Newborn screening • WP lead: Bregenz • (Huemer) • Experts from • countries • performing NBS WP1 Coordination WP lead: Freiburg (Blom) • Advisory board, steering committee • Synchronise with E-IMD WP2 Dissemination WP lead: Prague (Kozich)  Website, information leaflets, reports, posters WP3 Evaluation WP lead: Manchester (Morris)  External group including EUCERD, RD-Connect, JARD, PO members

  13. E-HOD February 2013 Coordinator Associate partners Collaborating partners E-IMD co-beneficiaries 13 associatepartners 19 collaboratingcenters From 15 countries 2 patient support groups UNIMAN VUmc CUH UMCR CUNI UKL-HD APHP OE FFUL CIBERER OPBG UZMS Doha, Qatar LKHB

  14. 13 associatedpartners 75 clinicalcollaboratingpartners 7 othercollaboratingpartners from 28 countries

  15. Patient registry: Participating centers: 63 Patients registered:    493

  16. Current activities • Guidelines on CBS, remethylation andmethylation • Training course, Prague, March 2016 • First Patient-Expert Meeting Prague, February 29, 2016 • Continous support collaborating partners to obtain ethical approval for the registry, see https://www.ehod-registry.org • Continuating communication and dissemination, see http://www.e-hod.org

  17. Professionals (care givers, researchers) E-HOD Public-private partnerships Patient organisations

  18. Professionals (care givers, researchers) E-HOD Public-private partnerships Patient organisations

  19. E-HOD Network Professionals E-HOD Public-private partnerships Patient organisations

  20. Professionals Public-private partnerships Patient organizations E-HOD would like to thank Thank you all! European Union Patient Organisations All Patients and their families Collaborating partners

  21. Thank you for your attention, Greetings from Freiburg!

  22. Professionals Public-private partnerships Patient organizations

  23. Folic acid and vascular disease: a tale with two faces? Good: not using antiplatelet agents? Bad: if on antiplatelet agents? Irena Shklover

  24. Contract number: EAHC 2012 12 02 Starting date: 15th February 2013 Duration of the project: 39 months Total amount of the project: €1.151.870 € 690.793

More Related